De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy
| Autor: | Maeson S. Latsko, Daniel C. Koboldt, Samuel J. Franklin, Scott E. Hickey, Rachel K. Williamson, Shannon Garner, Adam P. Ostendorf, Kristy Lee, Peter White, Richard K. Wilson |
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| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Cold Spring Harbor molecular case studies. |
| ISSN: | 2373-2873 0000-0264 |
| Popis: | De novo variants are increasingly recognized as a common cause of early infantile epileptic encephalopathies. We present a 4-yr-old male with epileptic encephalopathy characterized by seizures, autism spectrum disorder, and global developmental delay. Whole-genome sequencing of the proband and his unaffected parents revealed a novel de novo missense variant in GRIA2 (c.1589A > T; p.Lys530Met; ENST00000264426.14). Variants in the GRIA2 gene were recently reported to cause an autosomal dominant neurodevelopmental disorder with language impairments and behavioral abnormalities (OMIM; MIM #618917), a condition characterized by intellectual disability and developmental delay in which seizures are a common feature. The de novo variant identified in our patient maps to the edge of a key ligand binding domain of the AMPA receptor and has not been previously reported in gnomAD or other public databases, making it novel. Our findings provided a long-sought diagnosis for this patient and support the link between GRIA2 and a dominant neurodevelopmental disorder. |
| Databáze: | OpenAIRE |
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